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Lookup NU author(s): Professor Giorgio TascaORCiD
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© 2017 Elsevier B.V.Phenotypic and genetic/allelic heterogeneity is a feature of many neuromuscular disorders, titinopathies being one of them. Hereditary Myopathy with Early Respiratory Failure (HMERF) has been considered an extremely rare disease with definite clinicopathologic hallmarks, and geographically restricted to the Northern European population with one single titin gene defect identified in previous years. The recent availability of massive parallel sequencing techniques, allowing the screening of all coding regions of the genome in undiagnosed patients, together with a growing awareness of the main muscle MRI features of the disease, has led to the discovery of a number of HMERF families and new titin mutations in the last five years. We reviewed the clinical, pathological and muscle imaging findings that are still cornerstones for the diagnosis of this disease, as well as the most recent molecular genetic findings. HMERF is more common and geographically widespread than previously expected, and the knowledge of the whole phenotypic and molecular spectrum of HMERF can increase the number of diagnosed patients considerably.
Author(s): Tasca G, Udd B
Publication type: Review
Publication status: Published
Journal: Neuromuscular Disorders
Year: 2018
Volume: 28
Issue: 3
Pages: 268-276
Print publication date: 01/03/2018
Online publication date: 12/12/2017
Acceptance date: 03/12/2017
ISSN (print): 0960-8966
ISSN (electronic): 1873-2364
Publisher: Elsevier Ltd
URL: https://doi.org/10.1016/j.nmd.2017.12.002
DOI: 10.1016/j.nmd.2017.12.002
PubMed id: 29361395
